ClinVar Miner

Submissions for variant NM_213569.2(NEBL):c.358-15697T>C (rs1554779376)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543046 SCV000623467 uncertain significance Primary dilated cardiomyopathy 2017-06-20 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the NEBL gene. It does not directly change the encoded amino acid sequence of the NEBL protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a NEBL-related disease. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). In summary, this variant has uncertain impact on NEBL function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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